Canonical Allele Identifier: CA2695206133

Gene: NEU1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31860477_31860478insTC , CM000668.2:g.31860477_31860478insTC	GRCh38
NC_000006.11:g.31828254_31828255insTC , CM000668.1:g.31828254_31828255insTC	GRCh37
NC_000006.10:g.31936233_31936234insTC	NCBI36
NG_008201.1:g.7455_7456insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.759_760insGA MANE Select	ENSP00000364782.4:p.Pro254AspfsTer?
ENST00000677054.1:n.2002_2003insGA
ENST00000677512.1:n.867_868insGA
ENST00000678869.1:n.1433_1434insGA
ENST00000375631.4:c.759_760insGA	ENSP00000364782.4:p.Pro254AspfsTer?
ENST00000480384.1:n.788_789insGA
ENST00000491768.5:c.759_760insGA	ENSP00000433127.1:p.Pro254AspfsTer?
ENST00000495807.1:n.1893_1894insGA
NM_000434.3:c.759_760insGA	NP_000425.1:p.Pro254AspfsTer?
NM_000434.4:c.759_760insGA MANE Select	NP_000425.1:p.Pro254AspfsTer?